title: [Globoid cell leukodystrophy of adult. A first case in Poland].
abstract: Krabbe disease (globoid cell leukodystrophy) is a progressive, autosomal recessive disorder affecting peripheral and central nervous system. This disease is associated with mutation in GALC gene and its locus has been mapped to chromosome 14q31. GALC gene codes lysosomal hydrolytic enzyme: galactocerebroside β-galactosidase (galactosylceramidase) which is crucial for degradation of galactolipids, mostly galactosylceramide and galactosylsphingosine (psychosine). The disease may be subdivided into four types: infantile form with onset within the first six months, child form presenting between 6 months and 3 years, juvenile form presenting between 3 and 10 years and the rarest adult form with onset after 10 years. The diagnosis of Krabbe disease is based on clinical findings and confirmed with galactocerebroside β-galactosidase deficiency. We have found family with adult-onset disease. To our knowledge, this is the first observation of patient with adult form of Krabbe disease in Poland.
authors.affiliation: Klinika Neurologii i Epileptologii, Katedra Chorób Układu Nerwowego, Uniwersytet Medyczny w Łodzi, ul. Żeromskiego 113, 90-549 Łódź. centurio@mp.pl
authors.forename: K
authors.initials: K
authors.lastname: Jastrzębski
authors.forename: B
authors.initials: B
authors.lastname: Czartoryska
authors.forename: A
authors.initials: A
authors.lastname: Klimek
mesh_terms: D000328:Adult; D001921:Brain / Q000378:metabolism / Q000473:pathology; D005260:Female; D005698:Galactosylceramidase / Q000172:deficiency* / Q000378:metabolism*; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000378:metabolism* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D011044:Poland
chemical_list: D005698:Galactosylceramidase